Pedigrees of families found to carry mutations in RINT1 via WES

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Pedigrees of families found to carry mutations in RINT1 via WES Pedigrees of families found to carry mutations in RINT1 via WES. Mutation status is indicated for all family members for whom a DNA sample was available. Pedigrees of families found to carry mutations in RINT1 via WES. Mutation status is indicated for all family members for whom a DNA sample was available. A, pedigree with c.343C>T (p.Q115X). B, pedigree with c.1207G>T (p.D403Y). C, pedigree with c.1132_1134del (p.M378del). Mutation carriers are indicated in black text; obligate carriers are indicated in gray italicized text. Cancer diagnosis and age at onset is indicated for affected members. *, DNA underwent WES; BC, breast cancer (black-filled symbols); uk, age at diagnosis unknown; PC, pancreatic cancer; CC, colon cancer; MM, malignant melanoma; UK, unknown age; BlC, bladder cancer; LC, lung cancer; LiC, liver cancer; KC, kidney cancer; BnC, brain cancer; CUP, cancer of unknown primary; NMSC, non-melanoma skin cancer; UC, uterine cancer (all gray-filled symbols); V, verified cancer (via cancer registry or pathology report); wt, wild-type; d., age at death (years). Some symbols represent more than one person as indicated by a numeral. D, RINT1 protein multiple sequence alignment covering positions M378 and D403. Positions L376 and K383 are the nearest invariant positions before and after M378; as the spacing between those positions is invariant, deletion of M378 would be expected to damage the protein. As position D403 is invariant, a nonconservative substitution at that position would also be expected to damage the protein. Daniel J. Park et al. Cancer Discovery 2014;4:804-815 ©2014 by American Association for Cancer Research